Neurometabolic & Undiagnosed Neurological Disorders

Raphael Schiffmann, MD, specializes in diagnosing rare or difficult-to-diagnose neurological conditions in both children and adults. Without the large daily patient load of a primary care practice, he is able to have longer visits with patients and has the time to devote to patient-specific research. Dr. Schiffmann loves a challenge.

These undiagnosed diseases may include lysosomal storage diseases and leukodystrophies as well as other genetic diseases that affect the nervous system. Dr. Raphael Schiffmann is a leader in the study and treatment of many neurological disorders, including Fabry disease and Gaucher disease. He is pleased to welcome both physician- and self-referred patients.

In the general population, at least, 1 in 20 adults in the United States will be misdiagnosed with a common or rare disease once in their lifetime. Without the large patient load of a primary care practice, Dr. Schiffmann is able to have longer visits with patients and has time to devote to patient-specific research.

There are many patients, children, and adults alike, with neurological diseases that are rare or difficult to diagnose. An undiagnosed disease may consist of an unusual form of a known disease or be a new unrecognized disorder. Dr. Schiffmann understands the frustration and discouragement caused by living with an undiagnosed condition and applies knowledge acquired in his 25 years of experience in the field of neurology to assist his patients.